Canonical Allele Identifier: CA15505840

Gene: TWIST1

Linked Data

• dbSNP Id: rs1489259606
• gnomAD v3: 7-19116593-G-A
• gnomAD v4: 7-19116593-G-A
• MyVariant Identifiers: chr7:g.19156216G>A (hg19) ; chr7:g.19116593G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19116593G>A , CM000669.2:g.19116593G>A	GRCh38
NC_000007.13:g.19156216G>A , CM000669.1:g.19156216G>A	GRCh37
NC_000007.12:g.19122741G>A	NCBI36
NG_008114.1:g.6080C>T
NG_008114.2:g.6080C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.*42+78C>T MANE Select	ENSP00000242261.5:n.*42+78C>T
ENST00000242261.5:c.*42+78C>T	ENSP00000242261.5:n.*42+78C>T
ENST00000354571.5:c.448+78C>T
ENST00000443687.5:c.254+78C>T
NM_000474.3:c.*42+78C>T	NP_000465.1:n.*42+78C>T
XM_011515496.1:c.*42+78C>T	XP_011513798.1:n.*42+78C>T
NR_149001.1:n.1002+78C>T
NM_000474.4:c.*42+78C>T MANE Select	NP_000465.1:n.*42+78C>T
NR_149001.2:n.966+78C>T